Spinocerebellar ataxia type 14 (SCA14)

Evidence-based neurology checklist on spinocerebellar ataxia type 14 (sca14): Genetics This is caused by mutations in the protein kinase C (PRKCG) gene The gene is on chromosome 19q The onset is in early adult life: the mean onset age is 40 years Clinical features Magnetic resonance imaging (MRI)…

Genetics

  • This is caused by mutations in the protein kinase C (PRKCG) gene
  • The gene is on chromosome 19q
  • The onset is in early adult life: the mean onset age is 40 years

Clinical features

Magnetic resonance imaging (MRI) brain

References

  1. Whaley NR, Fujioka S, Wszolek ZK. Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics. Orphanet J Rare Dis 2011; 6:33.
  2. Yamashita I, Sasaki H, Yabe I, et al. A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter. Ann Neurol 2000; 48:156-163.
  3. Hiramoto K, Kawakami H, Inoue K, et al. Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4. Mov Disord 2006; 21:1355-1360.
  4. van de Warrenburg BP, Verbeek DS, Piersma SJ, et al. Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family. Neurology 2003; 61:1760-1765.
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